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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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QKI
QKI, KH domain containing RNA binding
Chromosome 6 · 6q26
NCBI Gene: 9444Ensembl: ENSG00000112531.18HGNC: HGNC:21100UniProt: Q8WY44
185PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA transportmRNA bindingregulation of macrophage differentiationregulation of mRNA splicing, via spliceosomecancercataractneurodegenerative diseasesubstance-related disorder
✦AI Summary

QKI is an RNA-binding protein with multi-functional roles in post-transcriptional gene regulation. Primarily, it recognizes and binds mRNAs modified by internal N(7)-methylguanine (m7G) and interacts with G3BP1 to localize these transcripts into stress granules, suppressing their translation during stress 1. QKI also functions as a negative regulator of angiogenesis by binding mRNAs encoding CDH5, NLGN1, and TNFAIP6 to promote their degradation 2. Additionally, QKI stabilizes miR-122 by recruiting poly(A) polymerase TENT2 for 3' adenylation 3. Mechanistically, QKI acts as a splicing factor regulating circular RNA biogenesis. It promotes circBCAR3 formation by juxtaposing circularized exons in pre-mRNA 4, and similarly facilitates hsa_circ_0007919 splicing and circularization 5. QKI binds thousands of transcriptome-wide sites containing defined sequence motifs, showing preferences for specific transcript regions 6. Clinically, QKI dysregulation associates with cancer progression. In pancreatic cancer, elevated QKI promotes a basal-like, chemoresistant phenotype by repressing classical-subtype splicing events while promoting basal-like events associated with shorter survival 7. MYB/MYBL1::QKI fusions occur in gliomas, with additional mutations potentially driving malignant transformation 8. QKI participates in extracellular vesicle RNA packaging, influencing disease-relevant cell communication 9.

Sources cited
1
QKI binds m7G-modified mRNAs and promotes their stress granule localization with G3BP1, suppressing translation
PMID: 37379838
2
QKI acts as a negative regulator of angiogenesis by promoting degradation of CDH5, NLGN1, and TNFAIP6 mRNAs
PMID: 32732889
3
QKI stabilizes miR-122 by recruiting TENT2 for 3' adenylation
PMID: 31792053
4
QKI regulates circBCAR3 biogenesis by juxtaposing circularized exons in pre-mRNA
PMID: 35840974
5
QKI enhances splicing and circularization of hsa_circ_0007919 pre-mRNA
PMID: 38044421
6
QKI binds thousands of transcriptome-wide sites with defined sequence motifs and distinct preferences for exonic/intronic and coding/untranslated regions
PMID: 20371350
7
QKI promotes basal-like PDAC phenotype with enhanced chemoresistance and poor clinical outcomes
PMID: 38325381
8
MYB/MYBL1::QKI fusions occur in gliomas and can contribute to malignant transformation with additional mutations
PMID: 36592415
9
QKI participates in RNA packaging into extracellular vesicles
PMID: 33391635
Disease Associationsⓘ20
cancerOpen Targets
0.56Moderate
cataractOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
substance-related disorderOpen Targets
0.41Moderate
Abnormality of the skeletal systemOpen Targets
0.40Moderate
mathematical abilityOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.38Weak
Sensorineural hearing impairmentOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.37Weak
osteoarthritis, hipOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
pilocytic astrocytomaOpen Targets
0.37Weak
smoking initiationOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
cerebellar pilocytic astrocytomaOpen Targets
0.37Weak
HER2 Positive Breast CarcinomaOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MED4Protein interaction100%MED10Protein interaction100%MED12Protein interaction100%MED29Protein interaction100%MED15Protein interaction100%MED16Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
61%
Bone Marrow
20%
Lung
18%
Ovary
11%
Liver
10%
Gene Interaction Network
Click a node to explore
QKIMED4MED10MED12MED29MED15MED16
PROTEIN STRUCTURE
Preparing viewer…
PDB4JVH · 3.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.14–0.45]
RankingsWhere QKI stands among ~20K protein-coding genes
  • #2,335of 20,598
    Most Researched185 · top quartile
  • #2,500of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedQKI
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
RNA packaging into extracellular vesicles: An orchestra of RNA-binding proteins?
PMID: 33391635
J Extracell Vesicles · 2020
1.00
2
CircBCAR3 accelerates esophageal cancer tumorigenesis and metastasis via sponging miR-27a-3p.
PMID: 35840974
Mol Cancer · 2022
0.90
3
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
0.80
4
hsa_circ_0007919 induces LIG1 transcription by binding to FOXA1/TET1 to enhance the DNA damage response and promote gemcitabine resistance in pancreatic ductal adenocarcinoma.
PMID: 38044421
Mol Cancer · 2023
0.70
5
Mutant KRAS Mediates circARFGEF2 Biogenesis to Promote Lymphatic Metastasis of Pancreatic Ductal Adenocarcinoma.
PMID: 37363990
Cancer Res · 2023
0.68